rs386833814

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs386833814(C;C)

Make rs386833814(C;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22813028

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs386833814
dbSNP (classic)	rs386833814
ClinGen	rs386833814
ebi	rs386833814
HLI	rs386833814
Exac	rs386833814
Gnomad	rs386833814
Varsome	rs386833814
LitVar	rs386833814
Map	rs386833814
PheGenI	rs386833814
Biobank	rs386833814
1000 genomes	rs386833814
hgdp	rs386833814
ensembl	rs386833814
geneview	rs386833814
scholar	rs386833814
google	rs386833814
pharmgkb	rs386833814
gwascentral	rs386833814
openSNP	rs386833814
23andMe	rs386833814
SNPshot	rs386833814
SNPdbe	rs386833814
MSV3d	rs386833814
GWAS Ctlg	rs386833814

Max Magnitude

0

ClinVar
Risk	rs386833814(C;C)
Alt	rs386833814(C;C)
Reference	Rs386833814(T;T)
Significance	Probable-Pathogenic
Disease	Lysinuric protein intolerance
Variation	info
Gene	SLC7A7
CLNDBN	Lysinuric protein intolerance
Reversed	1
HGVS	NC_000014.8:g.23282237A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049779.1,

[PMID 17764084] Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.

[PMID 18716612] Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.